Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_assertion type Assertion NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_head.
- NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_assertion description "[A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_provenance.
- NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_assertion evidence source_evidence_literature NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_provenance.
- NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_assertion SIO_000772 14564162 NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_provenance.
- NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_assertion wasDerivedFrom befree-2016 NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_provenance.
- NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_assertion wasGeneratedBy ECO_0000203 NP417246.RAWgWsPWCdiGCTpkohRTBjbAfzOUUj7PZDSji_9xK2AhM130_provenance.